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GAD1 and cleft lip and palate are reported together in 1 article.
Gene
GAD1
- HGNC
- HGNC:4092
2articles
2mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
Duchenne muscular dystrophy 1cleft lip and palate 1developmental delay 1epilepsy 1intellectual disability 1
Reported variants (articles · ClinVar status)
Phenotype
Cleft lip and palate
80articles
80mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
PMID 32705143 | PMCID PMC7447512 | DOI 10.1093/brain/awaa178 · Brain : a journal of neurology · 2020 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GAD1 | “Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.” | 0.98 | hgnc_dict_v1 |
| phenotype | cleft lip and palate | “Disruption of GAD1 results in an imbalance of inhibitory and excitatory neurotransmitters, and as Gad1-/- mice die neonatally of severe cleft palate, it has not been possible to determine any potential neurological dysfunction.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.” | 0.98 | phenotype_alias_lexicon_v2 |